| Primary Identifier | MGI:2442473 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 217344 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in negative regulation of protein secretion. Acts upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in endoplasmic reticulum membrane and plasma membrane. Used to study palmoplantar keratoderma-esophageal carcinoma syndrome. Human ortholog(s) of this gene implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. Orthologous to human RHBDF2 (rhomboid 5 homolog 2). PHENOTYPE: Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
